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Items: 1 to 50 of 66

1.

MeCP2 is involved in random mono-allelic expression for a subset of human autosomal genes.

Brousseau M, Nectoux J, Saintpierre B, Lebrun N, Cagnard N, Izac B, Olivier E, Letourneur F, Bienvenu T.

Biochim Biophys Acta Mol Basis Dis. 2020 Feb 15:165730. doi: 10.1016/j.bbadis.2020.165730. [Epub ahead of print]

PMID:
32070770
2.

Development of molecular analysis by digital PCR for clinical practice: positioning, current applications and perspectives.

Denis JA, Perrier A, Nectoux J, Lamy PJ, Alary AS, Sarafan-Vasseur N, Henaff D, Busser B, Appay R, Pedini P, Romanet P, Taly V, Fina F.

Ann Biol Clin (Paris). 2019 Dec 1;77(6):619-637. doi: 10.1684/abc.2019.1502.

PMID:
31859639
3.

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.

Krahn M, Biancalana V, Cerino M, Perrin A, Michel-Calemard L, Nectoux J, Leturcq F, Bouchet-Séraphin C, Acquaviva-Bourdain C, Campana-Salort E, Molon A, Urtizberea JA, Audic F, Chabrol B, Pouget J, Froissart R, Melki J, Rendu J, Petit F, Métay C, Seta N, Sternberg D, Fauré J, Cossée M.

Eur J Hum Genet. 2019 Mar;27(3):349-352. doi: 10.1038/s41431-018-0305-1. Epub 2018 Dec 14.

PMID:
30552423
4.

Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies.

Ávila-Polo R, Malfatti E, Lornage X, Cheraud C, Nelson I, Nectoux J, Böhm J, Schneider R, Hedberg-Oldfors C, Eymard B, Monges S, Lubieniecki F, Brochier G, Thao Bui M, Madelaine A, Labasse C, Beuvin M, Lacène E, Boland A, Deleuze JF, Thompson J, Richard I, Taratuto AL, Udd B, Leturcq F, Bonne G, Oldfors A, Laporte J, Romero NB.

J Neuropathol Exp Neurol. 2018 Dec 1;77(12):1101-1114. doi: 10.1093/jnen/nly095.

PMID:
30365001
5.

Development of digital PCR molecular tests for clinical practice: principles, practical implementation and recommendations.

Denis JA, Nectoux J, Lamy PJ, Rouillac Le Sciellour C, Guermouche H, Alary AS, Kosmider O, Sarafan-Vasseur N, Jovelet C, Busser B, Nizard P, Taly V, Fina F.

Ann Biol Clin (Paris). 2018 Oct 1;76(5):505-523. doi: 10.1684/abc.2018.1372. Review.

PMID:
30226193
6.

Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting.

El Khattabi LA, Brun S, Gueguen P, Chatron N, Guichoux E, Schutz S, Nectoux J, Sorlin A, Quere M, Boudjarane J, Tsatsaris V, Mandelbrot L, Schluth-Bolard C, Dupont JM, Rooryck C; H+ Consortium.

Ultrasound Obstet Gynecol. 2019 Aug;54(2):246-254. doi: 10.1002/uog.20112.

PMID:
30191619
7.

Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR.

Gruber A, Pacault M, El Khattabi LA, Vaucouleur N, Orhant L, Bienvenu T, Girodon E, Vidaud D, Leturcq F, Costa C, Letourneur F, Anselem O, Tsatsaris V, Goffinet F, Viot G, Vidaud M, Nectoux J.

Clin Chem Lab Med. 2018 Apr 25;56(5):728-738. doi: 10.1515/cclm-2017-0689.

PMID:
29613853
8.

Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.

Louvrier C, Pasmant E, Briand-Suleau A, Cohen J, Nitschké P, Nectoux J, Orhant L, Zordan C, Goizet C, Goutagny S, Lallemand D, Vidaud M, Vidaud D, Kalamarides M, Parfait B.

Neuro Oncol. 2018 Jun 18;20(7):917-929. doi: 10.1093/neuonc/noy009.

9.

Detection and monitoring of circulating tumor DNA in adrenocortical carcinoma.

Garinet S, Nectoux J, Neou M, Pasmant E, Jouinot A, Sibony M, Orhant L, Pipoli da Fonseca J, Perlemoine K, Bricaire L, Groussin L, Soubrane O, Dousset B, Libe R, Letourneur F, Bertherat J, Assié G.

Endocr Relat Cancer. 2018 Mar;25(3):L13-L17. doi: 10.1530/ERC-17-0467. Epub 2017 Dec 6. No abstract available.

PMID:
29212777
10.

Current, Emerging, and Future Applications of Digital PCR in Non-Invasive Prenatal Diagnosis.

Nectoux J.

Mol Diagn Ther. 2018 Apr;22(2):139-148. doi: 10.1007/s40291-017-0312-x. Review.

PMID:
29209991
11.

DMD and West syndrome.

Cardas R, Iliescu C, Butoianu N, Seferian A, Gataullina S, Gargaun E, Nectoux J, Bienvenu T, Craiu D, Gidaro T, Servais L.

Neuromuscul Disord. 2017 Oct;27(10):911-913. doi: 10.1016/j.nmd.2017.07.008. Epub 2017 Jul 19.

PMID:
28802771
12.

Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients.

Papadopoulos C, LaforÊt P, Nectoux J, Stojkovic T, Wahbi K, Carlier RY, Carlier PG, Leonard-Louis S, Leturcq F, Romero N, Eymard B, Behin A.

Muscle Nerve. 2017 Dec;56(6):1096-1100. doi: 10.1002/mus.25608. Epub 2017 Apr 10.

PMID:
28187523
13.

Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms.

Marey I, Ben Yaou R, Deburgrave N, Vasson A, Nectoux J, Leturcq F, Eymard B, Laforet P, Behin A, Stojkovic T, Mayer M, Tiffreau V, Desguerre I, Boyer FC, Nadaj-Pakleza A, Ferrer X, Wahbi K, Becane HM, Claustres M, Chelly J, Cossee M.

J Neuromuscul Dis. 2016 May 27;3(2):227-245.

PMID:
27854212
14.

Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

Oestergaard ST, Stojkovic T, Dahlqvist JR, Bouchet-Seraphin C, Nectoux J, Leturcq F, Cossée M, Solé G, Thomsen C, Krag TO, Vissing J.

Neurol Genet. 2016 Oct 11;2(6):e112. eCollection 2016 Dec.

15.

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.

O'Grady GL, Best HA, Sztal TE, Schartner V, Sanjuan-Vazquez M, Donkervoort S, Abath Neto O, Sutton RB, Ilkovski B, Romero NB, Stojkovic T, Dastgir J, Waddell LB, Boland A, Hu Y, Williams C, Ruparelia AA, Maisonobe T, Peduto AJ, Reddel SW, Lek M, Tukiainen T, Cummings BB, Joshi H, Nectoux J, Brammah S, Deleuze JF, Ing VO, Ramm G, Ardicli D, Nowak KJ, Talim B, Topaloglu H, Laing NG, North KN, MacArthur DG, Friant S, Clarke NF, Bryson-Richardson RJ, Bönnemann CG, Laporte J, Cooper ST.

Am J Hum Genet. 2016 Nov 3;99(5):1086-1105. doi: 10.1016/j.ajhg.2016.09.005. Epub 2016 Oct 13.

16.

Droplet digital PCR, a new approach to analyze fetal DNA from maternal blood: application to the determination of fetal RHD genotype.

Orhant L, Rondeau S, Vasson A, Anselem O, Goffinet F, Allach El Khattabi L, Leturcq F, Vidaud D, Bienvenu T, Tsatsaris V, Nectoux J.

Ann Biol Clin (Paris). 2016 Jun 1;74(3):269-77. doi: 10.1684/abc.2016.1139.

17.

Could Digital PCR Be an Alternative as a Non-Invasive Prenatal Test for Trisomy 21: A Proof of Concept Study.

El Khattabi LA, Rouillac-Le Sciellour C, Le Tessier D, Luscan A, Coustier A, Porcher R, Bhouri R, Nectoux J, Sérazin V, Quibel T, Mandelbrot L, Tsatsaris V, Vialard F, Dupont JM.

PLoS One. 2016 May 11;11(5):e0155009. doi: 10.1371/journal.pone.0155009. eCollection 2016.

18.

EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome.

Gargaun E, Seferian AM, Cardas R, Le Moing AG, Delanoe C, Nectoux J, Nelson I, Bonne G, Bihoreau MT, Deleuze JF, Boland A, Masson C, Servais L, Gidaro T.

J Neurol. 2016 Jul;263(7):1456-8. doi: 10.1007/s00415-016-8153-9. Epub 2016 May 9. No abstract available.

PMID:
27159987
19.

Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia.

Orhant L, Anselem O, Fradin M, Becker PH, Beugnet C, Deburgrave N, Tafuri G, Letourneur F, Goffinet F, Allach El Khattabi L, Leturcq F, Bienvenu T, Tsatsaris V, Nectoux J.

Prenat Diagn. 2016 May;36(5):397-406. doi: 10.1002/pd.4790. Epub 2016 Apr 7.

20.

[Interest of Droplet digital PCR in non-invasive prenatal testing].

Orhant L, Vasson A, Leturcq F, Vidaud D, Bienvenu T, Nectoux J.

Ann Biol Clin (Paris). 2015 Nov;73 Suppl 1:22-3. doi: 10.1684/abc.2015.1084. French. No abstract available.

PMID:
26620241
21.

Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes.

Delépine C, Meziane H, Nectoux J, Opitz M, Smith AB, Ballatore C, Saillour Y, Bennaceur-Griscelli A, Chang Q, Williams EC, Dahan M, Duboin A, Billuart P, Herault Y, Bienvenu T.

Hum Mol Genet. 2016 Jan 1;25(1):146-57. doi: 10.1093/hmg/ddv464. Epub 2015 Nov 24.

22.

A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.

De Cid R, Ben Yaou R, Roudaut C, Charton K, Baulande S, Leturcq F, Romero NB, Malfatti E, Beuvin M, Vihola A, Criqui A, Nelson I, Nectoux J, Ben Aim L, Caloustian C, Olaso R, Udd B, Bonne G, Eymard B, Richard I.

Neurology. 2015 Dec 15;85(24):2126-35. doi: 10.1212/WNL.0000000000002200. Epub 2015 Nov 18.

23.

Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells.

Massouridès E, Polentes J, Mangeot PE, Mournetas V, Nectoux J, Deburgrave N, Nusbaum P, Leturcq F, Popplewell L, Dickson G, Wein N, Flanigan KM, Peschanski M, Chelly J, Pinset C.

Skelet Muscle. 2015 Nov 14;5:40. doi: 10.1186/s13395-015-0062-6. eCollection 2015.

24.

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

Zillhardt JL, Poirier K, Broix L, Lebrun N, Elmorjani A, Martinovic J, Saillour Y, Muraca G, Nectoux J, Bessieres B, Fallet-Bianco C, Lyonnet S, Dulac O, Odent S, Rejeb I, Ben Jemaa L, Rivier F, Pinson L, Geneviève D, Musizzano Y, Bigi N, Leboucq N, Giuliano F, Philip N, Vilain C, Van Bogaert P, Maurey H, Beldjord C, Artiguenave F, Boland A, Olaso R, Masson C, Nitschké P, Deleuze JF, Bahi-Buisson N, Chelly J.

Eur J Hum Genet. 2016 Apr;24(4):611-4. doi: 10.1038/ejhg.2015.192. Epub 2015 Sep 23.

25.

Astrocyte Transcriptome from the Mecp2(308)-Truncated Mouse Model of Rett Syndrome.

Delépine C, Nectoux J, Letourneur F, Baud V, Chelly J, Billuart P, Bienvenu T.

Neuromolecular Med. 2015 Dec;17(4):353-63. doi: 10.1007/s12017-015-8363-9. Epub 2015 Jul 25.

PMID:
26208914
26.

Differential Expression and Regulation of Brain-Derived Neurotrophic Factor (BDNF) mRNA Isoforms in Brain Cells from Mecp2(308/y) Mouse Model.

Rousseaud A, Delépine C, Nectoux J, Billuart P, Bienvenu T.

J Mol Neurosci. 2015 Aug;56(4):758-767. doi: 10.1007/s12031-014-0487-0. Epub 2015 Jan 30.

PMID:
25634725
27.

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.

Nectoux J, de Cid R, Baulande S, Leturcq F, Urtizberea JA, Penisson-Besnier I, Nadaj-Pakleza A, Roudaut C, Criqui A, Orhant L, Peyroulan D, Ben Yaou R, Nelson I, Cobo AM, Arné-Bes MC, Uro-Coste E, Nitschke P, Claustres M, Bonne G, Lévy N, Chelly J, Richard I, Cossée M.

Eur J Hum Genet. 2015 Jul;23(7):929-34. doi: 10.1038/ejhg.2014.223. Epub 2014 Oct 29.

28.

Somatic mosaicism for a FOXG1 mutation: diagnostic implication.

Diebold B, Délepine C, Nectoux J, Bahi-Buisson N, Parent P, Bienvenu T.

Clin Genet. 2014 Jun;85(6):589-91. doi: 10.1111/cge.12212. Epub 2013 Jun 24. No abstract available.

PMID:
24766421
29.

Mutations in the C-terminus of CDKL5: proceed with caution.

Diebold B, Delépine C, Gataullina S, Delahaye A, Nectoux J, Bienvenu T.

Eur J Hum Genet. 2014 Feb;22(2):270-2. doi: 10.1038/ejhg.2013.133. Epub 2013 Jun 12.

30.

MeCP2 deficiency is associated with impaired microtubule stability.

Delépine C, Nectoux J, Bahi-Buisson N, Chelly J, Bienvenu T.

FEBS Lett. 2013 Jan 16;587(2):245-53. doi: 10.1016/j.febslet.2012.11.033. Epub 2012 Dec 10.

31.

Altered microtubule dynamics in Mecp2-deficient astrocytes.

Nectoux J, Florian C, Delepine C, Bahi-Buisson N, Khelfaoui M, Reibel S, Chelly J, Bienvenu T.

J Neurosci Res. 2012 May;90(5):990-8. doi: 10.1002/jnr.23001. Epub 2012 Jan 18.

PMID:
22252744
32.

A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization.

Le Guen T, Fichou Y, Nectoux J, Bahi-Buisson N, Rivier F, Boddaert N, Diebold B, Héron D, Chelly J, Bienvenu T.

Hum Mutat. 2011 Feb;32(2):E2026-35. doi: 10.1002/humu.21422. Epub 2010 Dec 7.

PMID:
21280142
33.

An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain.

Fichou Y, Nectoux J, Bahi-Buisson N, Chelly J, Bienvenu T.

J Hum Genet. 2011 Jan;56(1):52-7. doi: 10.1038/jhg.2010.143. Epub 2010 Dec 2.

PMID:
21124335
34.

Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy.

Nectoux J, Fichou Y, Cagnard N, Bahi-Buisson N, Nusbaum P, Letourneur F, Chelly J, Bienvenu T.

J Mol Med (Berl). 2011 Feb;89(2):193-202. doi: 10.1007/s00109-010-0699-x. Epub 2010 Nov 24.

PMID:
21107515
35.

A FOXG1 mutation in a boy with congenital variant of Rett syndrome.

Le Guen T, Bahi-Buisson N, Nectoux J, Boddaert N, Fichou Y, Diebold B, Desguerre I, Raqbi F, Daire VC, Chelly J, Bienvenu T.

Neurogenetics. 2011 Feb;12(1):1-8. doi: 10.1007/s10048-010-0255-4. Epub 2010 Aug 24. Review.

PMID:
20734096
36.

Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males.

Masliah-Plachon J, Auvin S, Nectoux J, Fichou Y, Chelly J, Bienvenu T.

Am J Med Genet A. 2010 Aug;152A(8):2110-1. doi: 10.1002/ajmg.a.33037. No abstract available.

PMID:
20602487
37.

Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes.

Nectoux J, Fichou Y, Rosas-Vargas H, Cagnard N, Bahi-Buisson N, Nusbaum P, Letourneur F, Chelly J, Bienvenu T.

J Cell Mol Med. 2010 Jul;14(7):1962-74. doi: 10.1111/j.1582-4934.2010.01107.x. Epub 2010 Jun 21.

38.

Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.

White R, Ho G, Schmidt S, Scheffer IE, Fischer A, Yendle SC, Bienvenu T, Nectoux J, Ellaway CJ, Darmanian A, Tong X, Cloosterman D, Bennetts B, Kalra V, Fullston T, Gecz J, Cox TC, Christodoulou J.

Twin Res Hum Genet. 2010 Apr;13(2):168-78. doi: 10.1375/twin.13.2.168.

PMID:
20397747
39.

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.

Bahi-Buisson N, Nectoux J, Girard B, Van Esch H, De Ravel T, Boddaert N, Plouin P, Rio M, Fichou Y, Chelly J, Bienvenu T.

Neurogenetics. 2010 May;11(2):241-9. doi: 10.1007/s10048-009-0220-2. Epub 2009 Oct 6.

PMID:
19806373
40.

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

Mencarelli MA, Spanhol-Rosseto A, Artuso R, Rondinella D, De Filippis R, Bahi-Buisson N, Nectoux J, Rubinsztajn R, Bienvenu T, Moncla A, Chabrol B, Villard L, Krumina Z, Armstrong J, Roche A, Pineda M, Gak E, Mari F, Ariani F, Renieri A.

J Med Genet. 2010 Jan;47(1):49-53. doi: 10.1136/jmg.2009.067884. Epub 2009 Jul 2.

PMID:
19578037
41.

Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.

Fichou Y, Bieth E, Bahi-Buisson N, Nectoux J, Girard B, Chelly J, Chaix Y, Bienvenu T.

Neurology. 2009 Jul 7;73(1):77-8; author reply 78. doi: 10.1212/01.wnl.0000349658.05677.d7. No abstract available.

PMID:
19564592
42.

Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome.

Fichou Y, Bahi-Buisson N, Nectoux J, Chelly J, Héron D, Cuisset L, Bienvenu T.

Eur J Hum Genet. 2009 Nov;17(11):1378-80. doi: 10.1038/ejhg.2009.82. Epub 2009 May 27. No abstract available.

43.

Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene.

Bahi-Buisson N, Girard B, Gautier A, Nectoux J, Fichou Y, Saillour Y, Poirier K, Chelly J, Bienvenu T.

Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):202-7. doi: 10.1002/ajmg.b.30974.

PMID:
19455595
44.

The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform.

Fichou Y, Nectoux J, Bahi-Buisson N, Rosas-Vargas H, Girard B, Chelly J, Bienvenu T.

Neurogenetics. 2009 Apr;10(2):127-33. doi: 10.1007/s10048-008-0161-1. Epub 2008 Nov 26.

PMID:
19034540
45.

Key clinical features to identify girls with CDKL5 mutations.

Bahi-Buisson N, Nectoux J, Rosas-Vargas H, Milh M, Boddaert N, Girard B, Cances C, Ville D, Afenjar A, Rio M, Héron D, N'guyen Morel MA, Arzimanoglou A, Philippe C, Jonveaux P, Chelly J, Bienvenu T.

Brain. 2008 Oct;131(Pt 10):2647-61. doi: 10.1093/brain/awn197. Epub 2008 Sep 12.

PMID:
18790821
46.

The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome.

Nectoux J, Bahi-Buisson N, Guellec I, Coste J, De Roux N, Rosas H, Tardieu M, Chelly J, Bienvenu T.

Neurology. 2008 May 27;70(22 Pt 2):2145-51. doi: 10.1212/01.wnl.0000304086.75913.b2. Epub 2008 Apr 23.

PMID:
18434641
47.

Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.

Rosas-Vargas H, Bahi-Buisson N, Philippe C, Nectoux J, Girard B, N'Guyen Morel MA, Gitiaux C, Lazaro L, Odent S, Jonveaux P, Chelly J, Bienvenu T.

J Med Genet. 2008 Mar;45(3):172-8. Epub 2007 Nov 9.

PMID:
17993579
48.

Netrin G1 mutations are an uncommon cause of atypical Rett syndrome with or without epilepsy.

Nectoux J, Girard B, Bahi-Buisson N, Prieur F, Afenjar A, Rosas-Vargas H, Chelly J, Bienvenu T.

Pediatr Neurol. 2007 Oct;37(4):270-4.

PMID:
17903671
49.

Update on fluoroquinolone resistance in Helicobacter pylori: new mutations leading to resistance and first description of a gyrA polymorphism associated with hypersusceptibility.

Cattoir V, Nectoux J, Lascols C, Deforges L, Delchier JC, Megraud F, Soussy CJ, Cambau E.

Int J Antimicrob Agents. 2007 Apr;29(4):389-96. Epub 2007 Feb 15.

PMID:
17303392
50.

A frequent large rearrangement in the CFTR gene in cystic fibrosis patients from Reunion Island.

Nectoux J, Audrezet MP, Viel M, Leroy C, Raguenes O, Ferec C, Lesure JF, Davy N, Renouil M, Cartault F, Bienvenu T.

Genet Test. 2006 Fall;10(3):208-14.

PMID:
17020473

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